Results 101 to 110 of about 122,438 (258)

Pediatric liver transplantation [PDF]

, 1987
Liver transplantation, which once was an experimental procedure of no practical interest, has become the preferred treatment for infants and children dying of almost all non-neoplastic end-stage liver diseases. Liver replacement is being provided by many
Esquivel, C, Gordon, R, Starzl, TE, Todo, S   +3 more
core  

Evaluation of the CRISPR/Cas9 system as genome editing platform for the Mucopolysaccharidosis IV A using a strategy for induction of higher homologous recombination frequency

Universitas Scientiarum
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding for the hydrolase N-acetylgalactose-6-sulfate sulfatase (GALNS). GALNS deficiency leads to a progressive buildup of partially degraded chondroitin-
Diego Alejandro Suarez, Andrés Felipe Leal, Carlos Javier Alméciga Díaz   +2 more
doaj   +1 more source

Thymic inborn errors of immunity

Journal of Allergy and Clinical Immunology
The thymus is crucial for optimal T-cell development by facilitating the generation and selection of a diverse repertoire of T cells that can recognize foreign antigens while promoting tolerance to self-antigens. A number of inborn errors of immunity causing complete or partial defects in thymic development (athymia) and/or impaired thymic function ...
Pala, Francesca, Notarangelo, Luigi D., Lionakis, Michail S.   +2 more
openaire   +3 more sources

Inborn errors of metabolism: a three-year experience

, 2019
Ferit Kulalı, Melis Köse, Tuğçe Çelik, Ezgi Yangın Ergon, Oğuz Han Kalkanlı, Rüya Çolak, Meral Yıldız, Senem Alkan Özdemir, Tülin Gökmen Yıldırım, Şebnem Çalkavur   +9 more
openalex   +2 more sources

On the notion of motor primitives in humans and robots [PDF]

, 2005
This article reviews two reflexive motor patterns in humans: Primitive reflexes and motor primitives. Both terms coexist in the literature of motor development and motor control, yet they are not synonyms.
Konczak, Jürgen
core  

Fetal neurosonographic phenotyping of inborn errors of metabolism

, 2023
Isabella Y. M. Wah, Chun Yiu Law
openalex   +2 more sources

Insights into mucosal associated invariant T cell biology from human inborn errors of immunity [PDF]

, 2022
Lauren J. Howson, Vanessa L. Bryant
openalex   +1 more source

439 Use of Amplitude Integrated Electroencephalography (AEEG) in Patients with Inborn Errors of Metabolism - a Review of 29 Cases [PDF]

, 2010
Monika Olischar, Canan Aygün, Mona C. Toet, Rod W. Hunt, Denis Azzopardi, Linda S. de Vries, Lena Hellström‐Westas, Eilon Shany, Christiane Theda   +8 more
openalex   +1 more source

Biotin Status of Epileptics [PDF]

, 1985
Achuta Murthy P. N., Berlit P., Blass J. P., Bonjour J.-P., Bonjour J.-P., Caspers H., Frigg M., Ghatak N. R., Glaser G. H., Iivanainen M., Johnston D., Krause K.-H., Krause K.-H., Krause K.-H., Meinardi H., Mock D. M., Munoz-Garcia D., Noll F., Patel M. S., Paulsen E. P., Reynolds E. H., Sander J. E., Schmidt D., Scorn D., Selhorst J. B., Sweetman L., Sydenstricker V. P., Thoene J., Vivo D. C., Watanabe T., Wolf B., Woodbury D. M., Woodbury D. M., Woodbury D. M.   +33 more
core   +1 more source

A Newborn Screening Programme for Inborn Errors of Metabolism in Galicia: 22 years of evaluation and follow-up [PDF]

, 2023
María L. Couce, M. Dolores Bóveda, Daisy Castiñeiras, María-Eugenia Vázquez-Mosquera, Sofía Gouveia, María Jose De Castro, Agustin Javier Iglesias Rodríguez, Cristóbal Colón, José A. Cocho, Paula Sánchez‐Pintos   +9 more
openalex   +1 more source